KRT83, keratin 83, 3889

N. diseases: 29; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation disease UNIPROT Novel KRT83 and KRT86 mutations associated with monilethrix. 25557232 2015
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation disease BEFREE Novel KRT83 and KRT86 mutations associated with monilethrix. 25557232 2015
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation disease BEFREE Diagnostic exome analysis revealed a heterozygous nonsense mutation in KRT83 categorized as deleterious and associated with monilethrix. 23610050 2013
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation disease UNIPROT A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. 15744029 2005
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GeneticVariation disease CLINVAR A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. 15744029 2005
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 GermlineCausalMutation disease ORPHANET A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. 15744029 2005
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 Biomarker disease CTD_human
CUI: C0546966
Disease: Monilethrix
Monilethrix 		0.720 CausalMutation disease CLINVAR
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.310 GeneticVariation disease BEFREE Autozygosity mapping and exome sequencing identified a homozygous frameshift deletion (c.811delA; p.Ser271fs) in <i>KRT83</i>, which co-segregated with the PSEK phenotype in the family and which is expected to abolish keratin 83, a type II keratin of hair and skin. 27965375 2017
CUI: C0265961
Disease: Erythrokeratodermia variabilis
Erythrokeratodermia variabilis 		0.310 GermlineCausalMutation disease ORPHANET Autozygosity mapping and exome sequencing identified a homozygous frameshift deletion (c.811delA; p.Ser271fs) in <i>KRT83</i>, which co-segregated with the PSEK phenotype in the family and which is expected to abolish keratin 83, a type II keratin of hair and skin. 27965375 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		0.100 Biomarker disease HPO
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		0.100 Biomarker disease HPO
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 Biomarker disease HPO
CUI: C0041834
Disease: Erythema
Erythema 		0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract 		0.100 Biomarker disease HPO
CUI: C0162298
Disease: Joint stiffness
Joint stiffness 		0.100 Biomarker phenotype HPO
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.100 Biomarker disease HPO
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque 		0.100 Biomarker phenotype HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 Biomarker phenotype HPO
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		0.100 Biomarker disease HPO
CUI: C0263490
Disease: Brittle hair
Brittle hair 		0.100 Biomarker disease HPO
CUI: C0334013
Disease: Phrynoderma
Phrynoderma 		0.100 Biomarker disease HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.100 Biomarker disease HPO